ClinVar for Gene (Select 50839) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324461	NM_023921.2(TAS2R10):c.790A>G (p.Thr264Ala)	TAS2R10 (T264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324460	NM_023921.2(TAS2R10):c.155T>A (p.Ile52Asn)	TAS2R10 (I52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324459	NM_023921.2(TAS2R10):c.626C>T (p.Ser209Leu)	TAS2R10 (S209L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174027	NM_023921.2(TAS2R10):c.692C>A (p.Ser231Tyr)	TAS2R10 (S231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174026	NM_023921.2(TAS2R10):c.654C>G (p.Asn218Lys)	TAS2R10 (N218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174025	NM_023921.2(TAS2R10):c.335A>C (p.Asn112Thr)	TAS2R10 (N112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174024	NM_023921.2(TAS2R10):c.293T>C (p.Phe98Ser)	TAS2R10 (F98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2684668	GRCh37/hg19 12p13.2(chr12:10588512-11788901)x3	KLRC1, KLRC2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2595019	NM_023921.2(TAS2R10):c.37G>T (p.Val13Leu)	TAS2R10 (V13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508655	NM_023921.2(TAS2R10):c.7C>T (p.Arg3Cys)	TAS2R10 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496198	NM_023921.2(TAS2R10):c.13G>A (p.Val5Met)	TAS2R10 (V5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459663	NM_023921.2(TAS2R10):c.232G>A (p.Gly78Ser)	TAS2R10 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456481	NM_023921.2(TAS2R10):c.145G>A (p.Gly49Ser)	TAS2R10 (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2382862	NM_023921.2(TAS2R10):c.610A>T (p.Asn204Tyr)	TAS2R10 (N204Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378778	NM_023921.2(TAS2R10):c.556T>C (p.Phe186Leu)	TAS2R10 (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373296	NM_023921.2(TAS2R10):c.209T>C (p.Phe70Ser)	TAS2R10 (F70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264893	NM_023921.2(TAS2R10):c.526A>G (p.Ile176Val)	TAS2R10 (I176V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262149	NM_023921.2(TAS2R10):c.181A>G (p.Ile61Val)	TAS2R10 (I61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259227	NM_023921.2(TAS2R10):c.844A>T (p.Ser282Cys)	TAS2R10 (S282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249214	NM_023921.2(TAS2R10):c.167T>A (p.Phe56Tyr)	TAS2R10 (F56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237984	NM_023921.2(TAS2R10):c.433G>C (p.Ala145Pro)	TAS2R10 (A145P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224008	NM_023921.2(TAS2R10):c.542G>C (p.Gly181Ala)	TAS2R10 (G181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208201	NM_023921.2(TAS2R10):c.85C>G (p.Leu29Val)	TAS2R10 (L29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207654	NM_023921.2(TAS2R10):c.593T>C (p.Ile198Thr)	TAS2R10 (I198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 59